Generation of induced pluripotent stem cells (iPSCs) from an Alzheimer's disease patient carrying a M146I mutation in PSEN1

Stem Cell Res. 2016 Mar;16(2):334-7. doi: 10.1016/j.scr.2016.01.001. Epub 2016 Jan 14.


Skin fibroblasts were obtained from a 46-year-old symptomatic man carrying a M146I mutation in the presenilin 1 gene (PSEN1), responsible for causing Alzheimer's disease (AD). Induced pluripotent stem cells (iPSCs) were derived via transfection with episomal vectors carrying hOCT4, hSOX2, hKLF2, hL-MYC, hLIN28 and shTP53 genes. M146I-iPSCs were free of genomically integrated reprogramming genes, had the specific mutation but no additional genomic aberrancies, expressed the expected pluripotency markers and displayed in vitro differentiation potential to the three germ layers. The reported M146I-iPSCs line may be a useful resource for in vitro modeling of familial AD.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alzheimer Disease / genetics
  • Alzheimer Disease / pathology*
  • Cell Differentiation
  • Cells, Cultured
  • Cellular Reprogramming
  • Embryoid Bodies / cytology
  • Exons
  • Humans
  • Induced Pluripotent Stem Cells / cytology*
  • Induced Pluripotent Stem Cells / metabolism
  • Karyotype
  • Male
  • Microscopy, Fluorescence
  • Middle Aged
  • Polymorphism, Single Nucleotide
  • Presenilin-1 / genetics*
  • Real-Time Polymerase Chain Reaction
  • Sequence Analysis, DNA
  • Transcription Factors / genetics
  • Transcription Factors / metabolism


  • Presenilin-1
  • Transcription Factors